Mutagenetix > Incidental Mutation

Incidental Mutation 'R7142:Gpc5'

553494

Institutional Source

Beutler Lab

Gene Symbol

Gpc5

Ensembl Gene

ENSMUSG00000022112

Gene Name

glypican 5

Synonyms

A230034F01Rik

MMRRC Submission

045250-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7142 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115329647-116762591 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115654615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 478 (H478Q)

Ref Sequence

ENSEMBL: ENSMUSP00000135857 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022707] [ENSMUST00000175665] [ENSMUST00000176912]

AlphaFold

Q8CAL5

Predicted Effect

probably benign
Transcript: ENSMUST00000022707

SMART Domains

Protein: ENSMUSP00000022707
Gene: ENSMUSG00000022112

Domain	Start	End	E-Value	Type
Pfam:Glypican	9	572	1.8e-182	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175665
AA Change: H478Q

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000135857
Gene: ENSMUSG00000022112
AA Change: H478Q

Domain	Start	End	E-Value	Type
Pfam:Glypican	82	480	1.3e-142	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176912

SMART Domains

Protein: ENSMUSP00000135085
Gene: ENSMUSG00000022112

Domain	Start	End	E-Value	Type
Pfam:Glypican	85	642	1.6e-174	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (63/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	A	10: 78,903,446 (GRCm39)	H290L	probably damaging	Het
Abca1	T	A	4: 53,082,050 (GRCm39)	S737C	probably damaging	Het
Abca14	G	C	7: 119,850,406 (GRCm39)	V753L	possibly damaging	Het
Adgrl1	C	T	8: 84,663,829 (GRCm39)	H1099Y	probably benign	Het
Akap6	T	G	12: 52,934,147 (GRCm39)	D546E	probably benign	Het
Aldh1l1	G	A	6: 90,540,398 (GRCm39)	D228N	probably damaging	Het
Cacna1e	G	T	1: 154,288,230 (GRCm39)	Q1883K	probably damaging	Het
Caskin2	A	G	11: 115,697,562 (GRCm39)	Y125H	probably benign	Het
Ccdc85a	A	T	11: 28,527,192 (GRCm39)	Y139N	probably damaging	Het
Cd93	C	T	2: 148,283,725 (GRCm39)	W540*	probably null	Het
Cdh3	G	A	8: 107,271,860 (GRCm39)		probably null	Het
Chmp2b	G	A	16: 65,343,794 (GRCm39)	Q88*	probably null	Het
Cpt1a	T	C	19: 3,425,100 (GRCm39)	M489T	probably benign	Het
Ctsk	G	A	3: 95,414,259 (GRCm39)	V274M	possibly damaging	Het
Cyp3a44	A	G	5: 145,714,771 (GRCm39)	V460A	probably benign	Het
Cypt4	C	T	9: 24,536,740 (GRCm39)	R77*	probably null	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Dnah7a	A	T	1: 53,452,927 (GRCm39)	Y3850*	probably null	Het
Drosha	A	T	15: 12,924,232 (GRCm39)	T1205S	possibly damaging	Het
Eif3j2	T	C	18: 43,610,465 (GRCm39)	E116G	probably damaging	Het
Ercc5	A	G	1: 44,213,374 (GRCm39)	E790G	probably damaging	Het
Fam163b	C	T	2: 27,003,567 (GRCm39)	R29Q	probably damaging	Het
Fbxo44	C	T	4: 148,243,269 (GRCm39)	G50E	unknown	Het
Foxo3	T	C	10: 42,150,591 (GRCm39)		probably null	Het
Gnal	C	T	18: 67,351,599 (GRCm39)	P386L	probably damaging	Het
Grhl2	A	T	15: 37,279,826 (GRCm39)	D178V	probably benign	Het
Gtf2i	C	A	5: 134,273,705 (GRCm39)	V755L	possibly damaging	Het
Hal	T	C	10: 93,336,513 (GRCm39)	V414A	possibly damaging	Het
Hmx2	T	C	7: 131,157,465 (GRCm39)	V193A	probably damaging	Het
Il17a	T	A	1: 20,802,327 (GRCm39)	M12K	probably benign	Het
Invs	T	A	4: 48,407,696 (GRCm39)	I557N	probably damaging	Het
Kng1	T	A	16: 22,898,170 (GRCm39)	H523Q	probably benign	Het
Lrp4	T	A	2: 91,325,339 (GRCm39)	I1388N	probably damaging	Het
Mboat4	A	G	8: 34,587,291 (GRCm39)	I63V	probably benign	Het
Mcoln2	G	A	3: 145,889,324 (GRCm39)		probably null	Het
Mgat5	A	T	1: 127,339,924 (GRCm39)	D435V	probably damaging	Het
Mri1	C	A	8: 84,983,753 (GRCm39)	R46L	probably damaging	Het
Mxra8	A	T	4: 155,927,519 (GRCm39)	Y409F	probably benign	Het
Nlrp1b	T	A	11: 71,062,901 (GRCm39)	R720*	probably null	Het
Ofcc1	T	C	13: 40,157,538 (GRCm39)	I887V	probably benign	Het
Or5l13	T	C	2: 87,780,056 (GRCm39)	I174V	probably benign	Het
Otud4	T	A	8: 80,399,391 (GRCm39)		probably null	Het
P3h1	T	A	4: 119,104,358 (GRCm39)	D626E	probably benign	Het
Pde2a	A	T	7: 101,153,857 (GRCm39)	D485V	probably damaging	Het
Phldb2	G	A	16: 45,577,539 (GRCm39)	R1129*	probably null	Het
Pkn1	T	C	8: 84,420,596 (GRCm39)	E10G	possibly damaging	Het
Psd2	A	G	18: 36,113,097 (GRCm39)	D264G	possibly damaging	Het
Psg29	A	G	7: 16,944,546 (GRCm39)	D352G	probably damaging	Het
Rgs14	T	C	13: 55,527,417 (GRCm39)	S218P	probably damaging	Het
Sec14l2	T	C	11: 4,048,379 (GRCm39)	T380A	probably benign	Het
Septin12	T	C	16: 4,806,226 (GRCm39)	T312A	unknown	Het
Skint5	A	T	4: 113,428,791 (GRCm39)	V1075E	unknown	Het
Ston2	A	G	12: 91,614,009 (GRCm39)	S800P	probably damaging	Het
Tmem106b	A	G	6: 13,081,564 (GRCm39)	N157S	probably damaging	Het
Tmem132b	G	A	5: 125,699,737 (GRCm39)	G133S	probably damaging	Het
Tmie	A	T	9: 110,699,749 (GRCm39)	M55K	possibly damaging	Het
Trpc6	A	T	9: 8,653,017 (GRCm39)	R608*	probably null	Het
Unc93a2	G	A	17: 7,644,021 (GRCm39)	T96I	probably damaging	Het
Usp35	A	G	7: 96,960,754 (GRCm39)	S891P	probably damaging	Het
Vmn1r178	A	G	7: 23,593,035 (GRCm39)	T28A	probably damaging	Het
Wnk1	T	A	6: 119,926,240 (GRCm39)	M1324L	probably benign	Het
Wrnip1	C	A	13: 32,986,616 (GRCm39)	S132R	possibly damaging	Het
Wsb1	T	C	11: 79,141,814 (GRCm39)	K68E	probably benign	Het
Zfp433	A	T	10: 81,556,040 (GRCm39)	K181*	probably null	Het

Other mutations in Gpc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Gpc5	APN	14	115,607,436 (GRCm39)	missense	probably damaging	1.00
IGL01298:Gpc5	APN	14	115,636,600 (GRCm39)	missense	probably benign	0.14
IGL01359:Gpc5	APN	14	115,607,162 (GRCm39)	missense	possibly damaging	0.74
IGL02354:Gpc5	APN	14	115,370,699 (GRCm39)	nonsense	probably null
IGL02361:Gpc5	APN	14	115,370,699 (GRCm39)	nonsense	probably null
IGL02982:Gpc5	APN	14	115,607,400 (GRCm39)	missense	probably damaging	1.00
IGL03120:Gpc5	APN	14	115,607,556 (GRCm39)	missense	possibly damaging	0.64
R0322:Gpc5	UTSW	14	115,636,563 (GRCm39)	missense	probably benign	0.05
R0396:Gpc5	UTSW	14	115,665,620 (GRCm39)	missense	possibly damaging	0.91
R0555:Gpc5	UTSW	14	115,789,740 (GRCm39)	missense	probably damaging	0.98
R0629:Gpc5	UTSW	14	115,789,651 (GRCm39)	missense	possibly damaging	0.94
R1536:Gpc5	UTSW	14	115,636,662 (GRCm39)	missense	probably benign	0.09
R1660:Gpc5	UTSW	14	115,636,691 (GRCm39)	missense	probably benign	0.12
R1676:Gpc5	UTSW	14	115,607,510 (GRCm39)	missense	probably damaging	1.00
R2328:Gpc5	UTSW	14	116,025,591 (GRCm39)	missense	probably damaging	0.99
R3522:Gpc5	UTSW	14	116,761,747 (GRCm39)	missense	probably benign	0.00
R3776:Gpc5	UTSW	14	115,607,472 (GRCm39)	missense	probably benign	0.05
R3885:Gpc5	UTSW	14	115,607,472 (GRCm39)	missense	probably benign	0.05
R3889:Gpc5	UTSW	14	115,607,472 (GRCm39)	missense	probably benign	0.05
R3893:Gpc5	UTSW	14	115,607,472 (GRCm39)	missense	probably benign	0.05
R4041:Gpc5	UTSW	14	115,370,628 (GRCm39)	missense	probably damaging	1.00
R4517:Gpc5	UTSW	14	115,789,651 (GRCm39)	missense	possibly damaging	0.94
R5068:Gpc5	UTSW	14	115,654,676 (GRCm39)	makesense	probably null
R5639:Gpc5	UTSW	14	115,330,179 (GRCm39)	missense	probably benign	0.13
R5730:Gpc5	UTSW	14	116,025,726 (GRCm39)	missense	possibly damaging	0.73
R5944:Gpc5	UTSW	14	115,607,250 (GRCm39)	missense	probably benign	0.24
R6351:Gpc5	UTSW	14	115,636,612 (GRCm39)	missense	probably benign	0.01
R6557:Gpc5	UTSW	14	115,329,966 (GRCm39)	unclassified	probably benign
R6657:Gpc5	UTSW	14	115,607,610 (GRCm39)	missense	probably benign	0.01
R6714:Gpc5	UTSW	14	115,789,715 (GRCm39)	nonsense	probably null
R6751:Gpc5	UTSW	14	115,607,363 (GRCm39)	missense	probably benign	0.00
R7057:Gpc5	UTSW	14	115,370,654 (GRCm39)	missense	possibly damaging	0.64
R7225:Gpc5	UTSW	14	115,789,710 (GRCm39)	missense	probably damaging	1.00
R7544:Gpc5	UTSW	14	115,665,585 (GRCm39)	missense	probably damaging	1.00
R7658:Gpc5	UTSW	14	115,665,620 (GRCm39)	missense	possibly damaging	0.91
R7695:Gpc5	UTSW	14	115,330,026 (GRCm39)	missense	unknown
R7785:Gpc5	UTSW	14	115,654,632 (GRCm39)	missense	probably benign	0.00
R8116:Gpc5	UTSW	14	115,636,637 (GRCm39)	missense	probably damaging	0.98
R8303:Gpc5	UTSW	14	115,665,667 (GRCm39)	missense	probably benign	0.01
R8983:Gpc5	UTSW	14	115,330,118 (GRCm39)	missense	unknown
RF001:Gpc5	UTSW	14	115,654,590 (GRCm39)	missense	probably benign	0.41
RF022:Gpc5	UTSW	14	115,789,688 (GRCm39)	missense	probably damaging	1.00
Z1176:Gpc5	UTSW	14	115,607,376 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCATAATAGTCAGCATTGAACTGGG -3'
(R):5'- CAGAAATTGTAGCTGCTACATAACC -3'

Sequencing Primer
(F):5'- CTGGGAAGAGAGGTCTGGATTGC -3'
(R):5'- GGACTTCCTGGATTGAATGTAAAG -3'

Posted On

2019-05-15